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CASE REPORT article

Front. Cardiovasc. Med.
Sec. General Cardiovascular Medicine
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1490436

A Rare Case of Noonan Syndrome with Multiple Lentigines Manifesting as Cardiac Enlargement

Provisionally accepted
Linghua Fan Linghua Fan Jie Jiang Jie Jiang Yan Zhang Yan Zhang Xiaoning Han Xiaoning Han Wenhui Ding Wenhui Ding *Xiaodi Xue Xiaodi Xue *Yimeng Jiang Yimeng Jiang *
  • Department of Cardiology, First Hospital, Peking University, Beijing, Beijing Municipality, China

The final, formatted version of the article will be published soon.

    Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder, primarily caused by variants in the PTPN11 gene. Characterized by multiple lentigines, hypertelorism, short stature, and hearing loss, its common cardiac manifestations include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect, and left-sided heart lesions. We report a 58-year-old female diagnosed with NSML presenting with bilateral atrial and ventricular chamber enlargement and atrial fibrillation, which are uncommon cardiac phenotypes of NSML.

    Keywords: Noonan syndrome with multiple lentigines, Heart Failure, Cardiomegaly, Atrial Fibrillation, LEOPARD Syndrome

    Received: 03 Sep 2024; Accepted: 03 Jan 2025.

    Copyright: © 2025 Fan, Jiang, Zhang, Han, Ding, Xue and Jiang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Wenhui Ding, Department of Cardiology, First Hospital, Peking University, Beijing, Beijing Municipality, China
    Xiaodi Xue, Department of Cardiology, First Hospital, Peking University, Beijing, Beijing Municipality, China
    Yimeng Jiang, Department of Cardiology, First Hospital, Peking University, Beijing, Beijing Municipality, China

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